Varaico: Literature-Extracted Genetic Variants

Gene:MKS1
Variant:p.G317E
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MKS1

NM_017777.4:p.G317E

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG et al.

Journal of Medical Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."